Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03023:Gucy2c'

408057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gucy2c

Ensembl Gene

ENSMUSG00000042638

Gene Name

guanylate cyclase 2c

Synonyms

GC-C

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03023

Quality Score

Status

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 136679794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]

AlphaFold

Q3UWA6

Predicted Effect

probably null
Transcript: ENSMUST00000032338

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	113	384	3.7e-8	PFAM
transmembrane domain	432	454	N/A	INTRINSIC
Pfam:Pkinase_Tyr	498	744	3.4e-33	PFAM
Pfam:Pkinase	499	744	1e-26	PFAM
CYCc	787	982	2.68e-107	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000078095

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	53	385	2.7e-41	PFAM
transmembrane domain	432	454	N/A	INTRINSIC
Pfam:Pkinase_Tyr	475	720	6.5e-32	PFAM
Pfam:Pkinase	480	720	7.2e-25	PFAM
CYCc	763	958	2.68e-107	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,859,419 (GRCm39)	D28G	probably damaging	Het
Btaf1	C	T	19: 36,987,415 (GRCm39)	R1746C	possibly damaging	Het
Comp	T	C	8: 70,831,260 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,488,275 (GRCm39)	D99G	probably benign	Het
Cyp2d9	A	G	15: 82,339,719 (GRCm39)	T313A	probably damaging	Het
Cyp3a59	T	A	5: 146,022,660 (GRCm39)	D55E	probably benign	Het
Dysf	A	G	6: 84,169,989 (GRCm39)	Y1790C	probably damaging	Het
Fmo3	A	C	1: 162,786,034 (GRCm39)	F319V	probably benign	Het
Frem2	A	T	3: 53,563,049 (GRCm39)	V486D	probably benign	Het
Hdac7	A	T	15: 97,695,838 (GRCm39)	Y674N	probably damaging	Het
Inpp5a	G	A	7: 139,105,702 (GRCm39)		probably null	Het
Jup	T	C	11: 100,271,518 (GRCm39)		probably benign	Het
Krt84	T	C	15: 101,436,880 (GRCm39)	T385A	possibly damaging	Het
Nbeal1	T	C	1: 60,292,572 (GRCm39)	Y1075H	probably damaging	Het
Nphp4	A	G	4: 152,608,692 (GRCm39)		probably null	Het
Or10ak11	A	T	4: 118,687,449 (GRCm39)	F63I	probably damaging	Het
Or12d17	A	G	17: 37,777,885 (GRCm39)	T263A	probably benign	Het
Or4p7	G	A	2: 88,221,687 (GRCm39)	C32Y	probably damaging	Het
Psmc4	T	A	7: 27,742,285 (GRCm39)	I264L	possibly damaging	Het
Rwdd4a	T	C	8: 47,995,803 (GRCm39)	V61A	probably benign	Het
Setx	A	G	2: 29,035,914 (GRCm39)	T800A	probably benign	Het
Vmn1r74	T	C	7: 11,581,257 (GRCm39)	C186R	possibly damaging	Het
Vsig2	A	G	9: 37,453,708 (GRCm39)	Y136C	probably damaging	Het

Other mutations in Gucy2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Gucy2c	APN	6	136,742,612 (GRCm39)	missense	probably benign	0.01
IGL01081:Gucy2c	APN	6	136,679,737 (GRCm39)	missense	probably damaging	1.00
IGL01285:Gucy2c	APN	6	136,686,739 (GRCm39)	missense	probably damaging	1.00
IGL01395:Gucy2c	APN	6	136,675,027 (GRCm39)	missense	probably damaging	1.00
IGL01408:Gucy2c	APN	6	136,675,009 (GRCm39)	missense	probably benign	0.19
IGL01752:Gucy2c	APN	6	136,747,106 (GRCm39)	missense	probably benign	0.10
IGL01766:Gucy2c	APN	6	136,692,971 (GRCm39)	missense	probably benign	0.43
IGL02245:Gucy2c	APN	6	136,706,201 (GRCm39)	missense	probably benign	0.00
IGL02648:Gucy2c	APN	6	136,706,211 (GRCm39)	nonsense	probably null
IGL02794:Gucy2c	APN	6	136,690,146 (GRCm39)	missense	probably damaging	1.00
IGL03178:Gucy2c	APN	6	136,706,237 (GRCm39)	splice site	probably benign
IGL03310:Gucy2c	APN	6	136,728,044 (GRCm39)	missense	probably benign
IGL03374:Gucy2c	APN	6	136,742,628 (GRCm39)	missense	probably benign	0.00
IGL03393:Gucy2c	APN	6	136,696,665 (GRCm39)	missense	probably benign	0.04
BB001:Gucy2c	UTSW	6	136,740,053 (GRCm39)	missense	probably benign	0.35
BB011:Gucy2c	UTSW	6	136,740,053 (GRCm39)	missense	probably benign	0.35
R0031:Gucy2c	UTSW	6	136,674,997 (GRCm39)	missense	probably damaging	0.99
R0128:Gucy2c	UTSW	6	136,681,247 (GRCm39)	missense	probably damaging	1.00
R0377:Gucy2c	UTSW	6	136,727,915 (GRCm39)	critical splice donor site	probably null
R0593:Gucy2c	UTSW	6	136,705,333 (GRCm39)	missense	probably damaging	0.99
R0613:Gucy2c	UTSW	6	136,737,721 (GRCm39)	missense	probably damaging	1.00
R0723:Gucy2c	UTSW	6	136,704,799 (GRCm39)	splice site	probably null
R0828:Gucy2c	UTSW	6	136,686,746 (GRCm39)	missense	probably damaging	1.00
R0837:Gucy2c	UTSW	6	136,699,418 (GRCm39)	missense	probably damaging	0.99
R0880:Gucy2c	UTSW	6	136,686,830 (GRCm39)	critical splice acceptor site	probably null
R1350:Gucy2c	UTSW	6	136,720,912 (GRCm39)	critical splice donor site	probably null
R1487:Gucy2c	UTSW	6	136,725,824 (GRCm39)	missense	possibly damaging	0.79
R1680:Gucy2c	UTSW	6	136,699,491 (GRCm39)	missense	probably damaging	1.00
R1751:Gucy2c	UTSW	6	136,725,773 (GRCm39)	splice site	probably benign
R1791:Gucy2c	UTSW	6	136,721,025 (GRCm39)	missense	probably damaging	1.00
R1953:Gucy2c	UTSW	6	136,681,291 (GRCm39)	missense	probably damaging	1.00
R2135:Gucy2c	UTSW	6	136,700,726 (GRCm39)	missense	probably damaging	1.00
R2227:Gucy2c	UTSW	6	136,679,758 (GRCm39)	missense	probably damaging	1.00
R2350:Gucy2c	UTSW	6	136,740,072 (GRCm39)	missense	probably damaging	0.98
R2906:Gucy2c	UTSW	6	136,685,385 (GRCm39)	missense	probably damaging	1.00
R2907:Gucy2c	UTSW	6	136,685,385 (GRCm39)	missense	probably damaging	1.00
R3699:Gucy2c	UTSW	6	136,747,109 (GRCm39)	missense	probably damaging	1.00
R3972:Gucy2c	UTSW	6	136,685,364 (GRCm39)	missense	probably damaging	1.00
R4613:Gucy2c	UTSW	6	136,685,319 (GRCm39)	missense	probably damaging	1.00
R4732:Gucy2c	UTSW	6	136,744,150 (GRCm39)	missense	probably damaging	1.00
R4733:Gucy2c	UTSW	6	136,744,150 (GRCm39)	missense	probably damaging	1.00
R4776:Gucy2c	UTSW	6	136,699,512 (GRCm39)	missense	probably damaging	1.00
R5087:Gucy2c	UTSW	6	136,744,033 (GRCm39)	missense	possibly damaging	0.69
R5284:Gucy2c	UTSW	6	136,740,041 (GRCm39)	missense	possibly damaging	0.56
R5366:Gucy2c	UTSW	6	136,697,739 (GRCm39)	missense	probably damaging	0.99
R5466:Gucy2c	UTSW	6	136,758,463 (GRCm39)	nonsense	probably null
R5911:Gucy2c	UTSW	6	136,699,440 (GRCm39)	missense	probably damaging	1.00
R6160:Gucy2c	UTSW	6	136,717,684 (GRCm39)	nonsense	probably null
R6367:Gucy2c	UTSW	6	136,686,776 (GRCm39)	missense	probably damaging	1.00
R6441:Gucy2c	UTSW	6	136,700,759 (GRCm39)	missense	probably damaging	0.98
R6812:Gucy2c	UTSW	6	136,674,993 (GRCm39)	missense	probably benign
R6865:Gucy2c	UTSW	6	136,747,127 (GRCm39)	missense	probably benign	0.13
R7065:Gucy2c	UTSW	6	136,697,764 (GRCm39)	missense	probably damaging	1.00
R7078:Gucy2c	UTSW	6	136,674,937 (GRCm39)	missense	probably benign	0.19
R7096:Gucy2c	UTSW	6	136,705,339 (GRCm39)	missense	probably benign	0.11
R7138:Gucy2c	UTSW	6	136,705,342 (GRCm39)	missense	probably damaging	1.00
R7343:Gucy2c	UTSW	6	136,679,746 (GRCm39)	missense	probably damaging	1.00
R7538:Gucy2c	UTSW	6	136,686,742 (GRCm39)	missense	probably damaging	1.00
R7587:Gucy2c	UTSW	6	136,681,288 (GRCm39)	missense	probably damaging	1.00
R7666:Gucy2c	UTSW	6	136,674,966 (GRCm39)	missense	probably benign
R7675:Gucy2c	UTSW	6	136,693,030 (GRCm39)	missense	possibly damaging	0.91
R7822:Gucy2c	UTSW	6	136,685,404 (GRCm39)	missense	probably damaging	1.00
R7842:Gucy2c	UTSW	6	136,746,814 (GRCm39)	splice site	probably null
R7924:Gucy2c	UTSW	6	136,740,053 (GRCm39)	missense	probably benign	0.35
R8078:Gucy2c	UTSW	6	136,674,919 (GRCm39)	missense	probably damaging	1.00
R8094:Gucy2c	UTSW	6	136,714,446 (GRCm39)	missense	probably benign	0.33
R8391:Gucy2c	UTSW	6	136,681,213 (GRCm39)	missense	probably damaging	1.00
R8428:Gucy2c	UTSW	6	136,704,892 (GRCm39)	missense	probably damaging	0.96
R9188:Gucy2c	UTSW	6	136,700,756 (GRCm39)	missense	probably benign	0.44
R9189:Gucy2c	UTSW	6	136,728,045 (GRCm39)	missense	probably benign
R9325:Gucy2c	UTSW	6	136,743,992 (GRCm39)	nonsense	probably null
R9361:Gucy2c	UTSW	6	136,714,429 (GRCm39)	missense	possibly damaging	0.80
R9413:Gucy2c	UTSW	6	136,700,771 (GRCm39)	missense	possibly damaging	0.94
Z1088:Gucy2c	UTSW	6	136,720,979 (GRCm39)	missense	probably benign
Z1177:Gucy2c	UTSW	6	136,744,194 (GRCm39)	missense	probably benign	0.01
Z1177:Gucy2c	UTSW	6	136,696,685 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02